Canonical Allele Identifier: CA542788408

Gene: COL7A1

Linked Data

• dbSNP Id: rs1189458795
• gnomAD v2: 3-48606181-A-G
• gnomAD v4: 3-48568748-A-G
• MyVariant Identifiers: chr3:g.48606181A>G (hg19) ; chr3:g.48606181_48606187delinsGCCTGGG (hg19) ; chr3:g.48568748A>G (hg38) ; chr3:g.48568748_48568754delinsGCCTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568748A>G , CM000665.2:g.48568748A>G	GRCh38
NC_000003.11:g.48606181A>G , CM000665.1:g.48606181A>G	GRCh37
NC_000003.10:g.48581185A>G	NCBI36
NG_007065.1:g.31505T>C , LRG_286:g.31505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+36T>C MANE Select	ENSP00000506558.1:n.7758+36T>C
ENST00000328333.12:c.7758+36T>C	ENSP00000332371.8:n.7758+36T>C
ENST00000459756.5:n.581+36T>C
ENST00000467985.1:n.604+36T>C
ENST00000487017.5:n.4397+36T>C
NM_000094.3:c.7758+36T>C , LRG_286t1:c.7758+36T>C	NP_000085.1:n.7758+36T>C
XM_011533336.1:c.7785+36T>C	XP_011531638.1:n.7785+36T>C
XM_011533337.1:c.7758+36T>C	XP_011531639.1:n.7758+36T>C
XM_011533338.1:c.7725+36T>C	XP_011531640.1:n.7725+36T>C
XM_011533339.1:c.7785+36T>C	XP_011531641.1:n.7785+36T>C
XR_940369.1:n.7821+36T>C
XR_940370.1:n.7821+36T>C
XR_940371.1:n.7821+36T>C
XR_940372.1:n.7795+36T>C
XM_017005688.1:c.7698+36T>C	XP_016861177.1:n.7698+36T>C
XM_017005689.1:c.7758+36T>C	XP_016861178.1:n.7758+36T>C
XR_001740003.1:n.7794+36T>C
XR_001740004.1:n.7794+36T>C
XR_001740005.1:n.7794+36T>C
XR_001740006.1:n.7768+36T>C
NM_000094.4:c.7758+36T>C MANE Select	NP_000085.1:n.7758+36T>C